R38T (p.Arg38Thr) variant of PROS1 (Vitamin K-dependent protein S)
R38T (p.Arg38Thr) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
R38T (p.Arg38Thr) variant details
- p.Arg38Thr
- gnomAD rs1263100178
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.79
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)